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Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
Published on: February 21, 2016
Co-existence of oblique pinnae and congenital heart disease
B N Walia1, A K Bhalla, A Dhawan
1Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh.
Abstract:
The paper reports a syndrome in which oblique placement of one or both the pinnae on face was found to co-exist with congenital anomalies of heart like VSD, PDA and Tetralogy of Fallot, etc. Although clinically discernible in 90% of the subjects, objective evidence of obliquity of pinna was documented by photogrammetry. The values for the ear inclination in subjects categorized clinically as normally placed pinna were 7.9 degrees +/- 3.39 degrees with range 2 degrees-17 degrees. In contrast, subject where the pinna was clinically categorized as oblique had mean AEI 16.5 degrees +/- 5.81 degrees with a range 5 degrees-33 degrees. Eighteen of the 20 subjects with oblique pinna were demonstrated to have some congenital anomaly of heart as indicated by clinical and echocardiographic examination. In contrast, in subjects with normally placed pinna only 3 out of 34 possessed clinical heart defects. Presence of oblique pinna indicates a thorough search for undetected heart defects.
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